Results 81 to 90 of about 1,216 (116)

Sudden cardiac arrest in a child with nemaline myopathy Critical Care

, 2015
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers.
Manti S., Cavallari V., Marseglia L., Gitto E., D'Angelo G., Salpietro V., Arrigo T.   +6 more
core   +1 more source

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Adult-onset nemaline myopathy presenting as respiratory failure.

, 2008
Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy.
Farrell, Michael A, Kelly, Emer, McElvaney, Noel G   +2 more
core  

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 [PDF]

, 2000
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants
Morton, D. Holmes, Biesecker, Leslie G., Agarwala, Richa, Schäffer, Alejandro A., Kelley, Richard I., Francomano, Clair A., Johnston, Jennifer J., Koch, Thorsten, Crawford, Thomas O.   +8 more
core   +1 more source

PARMAKLARDA EKSTANSOR GÜÇ KAYBI İLE KLİNİĞE YANSIYAN BİR NEMALİN MİYOPATİ OLGUSU

Cerrahpaşa Medical Journal, 2014
Background.- Wide spectrum of genetic defects may lead to congenital myopathies. Thus, clinical features such as age of onset, distribution of weakness and other associating diseases, may very considerably.Diagnostic difficulties are encountered with ...
Şevki ŞAHİN, Mehmet AKALIN, Meral KIZILTAN   +2 more
doaj  

A Rare Case of Mild Nemaline Myopathy in an 11-year-old Male Athlete: Challenges in Diagnosis and Physical Activity Management

Indian Journal of Physical Medicine & Rehabilitation
Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterised by muscle weakness and the presence of nemaline bodies in muscle fibres.
Sagolsem Adarsh Singh, Akoijam Joy Singh
doaj   +1 more source

Magnetic resonance imaging of muscle in nemaline myopathy

, 2004
We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases.
Pelin, K, Sewry, C A, Chattopadhyay, A, Counsell, Serena; id_orcid, Bydder, G, North, K, Wallgren-Pettersson, C, Jungbluth, H; id_orcid, Muntoni, F, Mercuri, E, Laing, N, Allsop, J   +11 more
core   +1 more source

Screening for Suppressors of Nemaline Myopathy in Zebrafish and Mouse Models of the Disease [PDF]

, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations. 13 genes have been linked to nemaline myopathy, all of which are associated with the thin filament of ...
Qiu, Boyang
core   +2 more sources

Clinical course correlates poorly with muscle pathology in nemaline myopathy

, 2003
Objective: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. Methods: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed ...
De Girolami, U, Beggs, AH, Muirhead, D, Dermett, [No Value], Schnell, C, Ilkovski, B, Shield, LK, Ryan, MM, Strickland, CD, Midgett, C, Houston, R, Iannaccone, ST, Laing, NG, North, KN, Sanoudou, D   +14 more
core  

Deciphering the Effect of Nemaline-Myopathy Nebulin Mutations on Desmin Binding [PDF]

, 2013
Our research focuses on the role of intermediate proteins in human disease. Desmin, a major intermediate filament protein in muscle cells, is organized into a central coiledcoil alpha helical domain flanked by globular head and tail domains.
Jacobs, Krystyna M
core   +1 more source